Page 120 - Read Online
P. 120
Page 32 of 34 West et al. Rare Dis Orphan Drugs J 2024;3:22 https://dx.doi.org/10.20517/rdodj.2023.61
133. Pr FABRAZYME®. Available from: https://pdf.hres.ca/dpd_pm/00075174.PDF [Last accessed on 11 Jul 2024].
134. Pr REPLAGA®. Available from: https://pdf.hres.ca/dpd_pm/00063277.PDF [Last accessed on 11 Jul 2024].
Pr
135. GALAFOLD®. Available from: https://pdf.hres.ca/dpd_pm/00071852.PDF [Last accessed on 11 Jul 2024].
136. Benjamin ER, Della Valle MC, Wu X, et al. The validation of pharmacogenetics for the identification of Fabry patients to be treated
with migalastat. Genet Med 2017;19:430-8. DOI PubMed PMC
137. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in
Fabry’s disease. N Engl J Med 2001;345:9-16. DOI
138. Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA
2001;285:2743-9. DOI
139. Eng CM, Banikazemi M, Gordon RE, et al. A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic,
substrate clearance, and safety studies. Am J Hum Genet 2001;68:711-22. DOI
140. Thurberg BL, Rennke H, Colvin RB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell
types after enzyme replacement therapy. Kidney Int 2002;62:1933-46. DOI
141. Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med
2007;146:77-86. DOI
142. Germain DP, Charrow J, Desnick RJ, et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with
Fabry disease. J Med Genet 2015;52:353-8. DOI PubMed PMC
143. Cybulla M, Nicholls K, Feriozzi S, et al. Renoprotective effect of agalsidase alfa: a long-term follow-up of patients with Fabry
disease. J Clin Med 2022;11:4810. DOI PubMed PMC
144. Najafian B, Tøndel C, Svarstad E, Sokolovkiy A, Smith K, Mauer M. One year of enzyme replacement therapy reduces
globotriaosylceramide inclusions in podocytes in male adult patients with Fabry disease. PLoS One 2016;11:e0152812. DOI
PubMed PMC
145. Mauer M, Sokolovskiy A, Barth JA, et al. Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry
disease with amenable GLA mutations following 6 months of migalastat treatment. J Med Genet 2017;54:781-6. DOI PubMed PMC
146. Tøndel C, Bostad L, Larsen KK, et al. Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol
2013;24:137-48. DOI PubMed PMC
147. Ramaswami U, Bichet DG, Clarke LA, et al. Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: a 5-
year randomized controlled trial. Mol Genet Metab 2019;127:86-94. DOI
148. Hughes DA, Nicholls K, Shankar SP, et al. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy
in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet 2017;54:288-96. DOI PubMed
PMC
149. Bichet DG, Torra R, Wallace E, et al. Long-term follow-up of renal function in patients treated with migalastat for Fabry disease. Mol
Genet Metab Rep 2021;28:100786. DOI
150. Nowak A, Huynh-Do U, Krayenbuehl PA, Beuschlein F, Schiffmann R, Barbey F. Fabry disease genotype, phenotype, and migalastat
amenability: insights from a national cohort. J Inherit Metab Dis 2020;43:326-33. DOI PubMed
151. Hughes D, Sunder-Plassmann G, Jovanovic A, et al. FollowME Fabry pathfinders registry: renal effectiveness in a multi-national,
multi-center cohort of patients on migalastat treatment for at least three years. Mol Genet Metab 2023;138:107159. DOI
152. Lenders M, Nordbeck P, Kurschat C, et al. Treatment of Fabry's disease with migalastat: outcome from a prospective observational
multicenter study (FAMOUS). Clin Pharmacol Ther 2020;108:326-37. DOI
153. West ML, Bichet DG, Iwanochko R, Khan A, Sirrs S, Lemoine K. Initiation of pharmacologic chaperone therapy for Fabry disease in
the Canadian Fabry disease initiative (CFDI) registry is not associated with reduction of kidney function. Mol Genet Metab
2024;141:108079. DOI
154. West ML, Robichaud R, Sandila N, Lemoine K. Switch from enzyme replacement therapy to pharmacologic chaperone: improvement
in advanced Fabry nephropathy. Mol Genet Metab 2024;141:108077. DOI
155. Biegstraaten M, Arngrímsson R, Barbey F, et al. Recommendations for initiation and cessation of enzyme replacement therapy in
patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis 2015;10:36. DOI
PubMed PMC
156. Hughes D, Linhart A, Gurevich A, Kalampoki V, Jazukeviciene D, Feriozzi S; FOS Study Group. Prompt agalsidase alfa therapy
initiation is associated with improved renal and cardiovascular outcomes in a Fabry outcome survey analysis. Drug Des Devel Ther
2021;15:3561-72. DOI PubMed PMC
157. van der Veen SJ, Korver S, Hirsch A, et al. Early start of enzyme replacement therapy in pediatric male patients with classical Fabry
disease is associated with attenuated disease progression. Mol Genet Metab 2022;135:163-9. DOI
158. Schiffmann R, Ries M, Blankenship D, et al. Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease
progression over 1 year of agalsidase alfa. Genet Med 2013;15:983-9. DOI
159. Talbot A, Nicholls K, Fletcher JM, Fuller M. A simple method for quantification of plasma globotriaosylsphingosine: utility for
Fabry disease. Mol Genet Metab 2017;122:121-5. DOI
160. Bichet DG, Aerts JM, Auray-Blais C, et al. Assessment of plasma lyso-Gb for clinical monitoring of treatment response in
3
migalastat-treated patients with Fabry disease. Genet Med 2021;23:192-201. DOI PubMed PMC
161. Germain DP, Hughes DA, Nicholls K, et al. Treatment of Fabry’s disease with the pharmacologic chaperone migalastat. N Engl J